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154 related items for PubMed ID: 33234470

  • 1. Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
    Manzoni F, Salvatici E, Burlina A, Andrews A, Pasquali M, Longo N.
    Mol Genet Metab; 2020 Dec; 131(4):380-389. PubMed ID: 33234470
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  • 2. Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
    Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, Porta F, Ortolano R, Rovelli V, Schiaffino MC, Spada M, Blau N, Leuzzi V.
    Mol Genet Metab; 2020 Dec; 131(1-2):155-162. PubMed ID: 32651154
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  • 3. A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels.
    Ogawa A, Kanazawa M, Takayanagi M, Kitani Y, Shintaku H, Kohno Y.
    Brain Dev; 2008 Jan; 30(1):82-5. PubMed ID: 17590551
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  • 4. Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.
    Jäggi L, Zurflüh MR, Schuler A, Ponzone A, Porta F, Fiori L, Giovannini M, Santer R, Hoffmann GF, Ibel H, Wendel U, Ballhausen D, Baumgartner MR, Blau N.
    Mol Genet Metab; 2008 Mar; 93(3):295-305. PubMed ID: 18060820
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  • 5. Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.
    Ye J, Liu X, Ma X, Zhang Y, Huang X, Chen R, Gu X.
    Chin Med J (Engl); 2002 Feb; 115(2):217-21. PubMed ID: 11940335
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  • 6. [Screening for 6-pyruvoyl-tetrahydrobiopterin synthase (PTPS) deficiency: clinical analysis of 9 patients with PTPS deficiency].
    Ye J, Liu X, Huang X.
    Zhonghua Yi Xue Za Zhi; 2000 Jul; 80(7):513-5. PubMed ID: 11798810
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  • 7. Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.
    Dudesek A, Röschinger W, Muntau AC, Seidel J, Leupold D, Thöny B, Blau N.
    Eur J Pediatr; 2001 May; 160(5):267-76. PubMed ID: 11388593
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  • 8. Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan.
    Niu DM.
    Brain Dev; 2011 Nov; 33(10):847-55. PubMed ID: 21880449
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  • 15. [Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China].
    Ye J, Qiu WJ, Han LS, Zhang HW, Zhou JD, Gao XL, Wang Y, Gu XF.
    Zhonghua Er Ke Za Zhi; 2008 Apr; 46(4):281-5. PubMed ID: 19099731
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  • 17. [Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency].
    Qu YJ, Song F, Jin YW, Wang H.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2008 Apr; 30(2):170-4. PubMed ID: 18505119
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  • 18. Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
    Thöny B, Leimbacher W, Blau N, Harvie A, Heizmann CW.
    Am J Hum Genet; 1994 May; 54(5):782-92. PubMed ID: 8178819
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  • 19. "Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.
    Niederwieser A, Shintaku H, Leimbacher W, Curtius HC, Hyànek J, Zeman J, Endres W.
    Eur J Pediatr; 1987 May; 146(3):228-32. PubMed ID: 3297709
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  • 20. 6-pyruvoyl tetrahydropterin synthase deficiency: a case report.
    Capistrano-Estrada SB, Nyhan WL.
    Southeast Asian J Trop Med Public Health; 2003 May; 34 Suppl 3():186-8. PubMed ID: 15906733
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